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Purpose: Screening of Gardner syndrome (GS) patients is tailored towards prevention of colorectal cancer (CRC). However, many patients suffer from desmoid tumors, which are challenging to treat due to invasive growth and local recurrence. The aims of our study were to determine the effectiveness of screening in GS and analyze outcome of desmoid tumors by treatment modality., Methods: This was a cohort study of a family of 105 descendants with GS. All family members who agreed were screened by endoscopy, and colorectal resection was performed upon pending malignancy. Resectable desmoids were excised, whereas large tumors were treated by a combination of brachytherapy (BT) and radiotherapy (RT). Main outcome measures were the incidence of CRC and overall and disease-specific mortality (ClinicalTrial.gov ID NCT01286662)., Results: Thirty-seven of 105 family members have GS. Preventive colorectal resections were performed in 16 patients (15 %), with one death due to gastric cancer. In four patients who denied screening endoscopy, invasive tumors of the colon (three patients) and stomach developed. Of 33 desmoid tumors, 10 (30 %) were located in the mesentery, 17 (52 %) in the abdominal wall, and 6 (18 %) in extra-abdominal sites. Excision of 12 desmoids was performed in eight patients. Four desmoids were treated by BT and RT and showed full or partial remission., Conclusions: Provided adequate screening, good long-term control of colorectal tumors is achievable. However, desmoid tumors determine survival and quality of life in many patients. Our data suggest good local control using a combination of brachytherapy/radiotherapy in large desmoids unsuitable for surgical resection.

Gardner fibroma (GAF) is a benign soft tissue lesion with a predilection for childhood and adolescence and an association with familial adenomatous polyposis (FAP) and desmoid type fibromatosis (desmoid). We report 45 patients with GAF with clinicopathologic correlation and immunohistochemical analysis for beta-catenin and related proteins. Forty-five patients with 57 GAFs were identified from surgical pathology and consultation files. Immunohistochemistry for beta-catenin, cyclin-D1, and C-myc was performed on formalin-fixed, paraffin-embedded tissues using standard techniques in 25 GAFs from 24 patients. Information about family history, intestinal polyps, colon cancer, and soft tissue tumors was available in 23 patients. Sixty-nine percent had known FAP or adenomatous polyposis coli (APC), 22% had no history of familial polyps or soft tissue tumors, and 13% had an individual or family history of soft tissue masses and/or desmoids, with follow-up periods of 6 months to 26 years (median 3 y, mean 5 y). The age range at initial diagnosis was 2 months to 36 years. Seventy-eight percent were diagnosed in the first decade, 15% in the second decade, and 7% in the third decade. Eight patients (18%) had documented desmoids concurrently or later; 4 of these had FAP and 1 had familial desmoids. Sites of GAF included the back and paraspinal region in 61%, the head and neck in 14%, the extremities in 14%, and the chest and abdomen in 11%. All displayed a bland hypocellular proliferation of haphazardly arranged coarse collagen fibers with a bland hypocellular proliferation of inconspicuous spindle cells, small blood vessels, and a sparse mast cell infiltrate. Immunohistochemically, 64% showed nuclear reactivity for beta-catenin (9 patients with known APC, 5 without definite information about FAP). One hundred percent showed nuclear reactivity for both cyclin-D1 and C-myc. beta-catenin reactivity had no correlation with age, site, or recurrence. Two beta-catenin-negative GAFs were from FAP patients. In conclusion, GAF has a predilection for childhood and early adulthood, a strong association with FAP/APC, an association with concurrent or subsequent development of desmoids, and overexpression of beta-catenin and other proteins in the APC and Wnt pathways. The proportion of sporadic GAFs that have APC mutation remains to be determined.

A 28-year-old man with Gardner syndrome was admitted to our Department because of multiple abdominal masses. Abdominal computed tomography revealed severe hydronephrosis of both kidneys due to ureteral compression against the pelvic bones exerted by multiple solid abdominal masses. The patient developed oligoanuria. Right percutaneous nephrostomy tube placement was followed by restoration of diuresis and progressive recovery of renal function of the left side. The patient then underwent median laparotomy and removal of five large desmoid tumors originating from the abdominal wall. Bilateral ureteral obstruction due to abdominal desmoid tumors can be a rare urologic complication of Gardner syndrome.

Gardner syndrome (GS), caused by mutations in the adenomatous polyposis coli (APC) gene, is characterized by polyposis coli, osteomas, and various soft-tissue tumors. If undetected or untreated, virtually all patients develop colonic carcinoma at a young age. Early detection, while essential, can be difficult because of attenuated phenotypes or spontaneous mutations. We present the clinicopathologic features of 11 identical fibromatous lesions that we have termed Gardner-associated fibroma (GAF), which not only appear to be a part of the spectrum of lesions associated with GS but, in some cases, represent the sentinel event leading to its detection. The GAFs occurred in 11 patients (5 boys and 6 girls; age range, 3 months-14 years), were solitary (n = 7) or multiple (n = 4), and occurred in the superficial and deep soft tissues of the paraspinal region (n = 7), back (n = 3), face (n = 2), scalp (n = 2), chest wall (n = 2), thigh (n = 1), neck (n = 1), and flank (n = 1). Histologically, GAFs resemble nuchal-type fibromas (NFs), consisting of thick, haphazardly arranged collagen bundles between which are found occasional bland fibroblasts, and having margins that frequently engulf surrounding structures including adjacent fat, muscle and nerves. After surgical excision, four patients developed recurrences that were classic desmoid fibromatoses (DFs). In one patient with multiple GAFs, one lesion had the features of GAF and DF in the absence of surgical trauma. A family history of GS or polyposis (n = 6) or DF (n = 1) was known at the time of surgery in seven patients. In three patients, the diagnosis of GAF resulted in the diagnosis of unsuspected APC in older family members, with the detection of an occult colonic adenocarcinoma in one parent. In the family of the remaining patient, no stigmata of GS were present. Genetic analysis of this child was performed to investigate the presence of a spontaneous (new) mutation; however, no abnormalities were detected. The significance of GAF is that it serves as a sentinel event for identifying GS kindreds, including those with a high risk for the development of DF, and it may potentially identify children with spontaneous mutations of the APC gene. Because NFs and GAFs resemble one another, we suggest that a subset of NF occurring in multiple sites, unusual locations, or children may be GAF.

To clarify the clinical risk of desmoid tumors developing in familial adenomatous polyposis, we reviewed the cases of 49 Japanese patients diagnosed with familial adenomatous polyposis at our institute. In six patients who manifested desmoid tumors at a mean age of 31 years, we reviewed the clinical features and compared various phenotypic manifestations with those in the 43 patients without desmoid tumors. During the observation periods (mean, 6.5 years), two of six patients with desmoid tumors died because of the tumors, which measured > 10 cm in diameter at the initial diagnosis, whereas the remaining four patients with desmoid tumors < 5 cm did not experience complications. The patients with desmoid tumors tended to be women (5 of 6 vs. 17 of 43; p = 0.05) and more frequently had gastric fundic gland polyposis (5 of 6 vs. 17 of 43; p = 0.05) than did the patients without desmoid tumors. There were no apparent differences in other clinical manifestations, including the incidences of colonic polyposis, gastroduodenal adenomas, and extraintestinal tumors. Desmoid tumors can be serious complication in patients with familial adenomatous polyposis. There may be some association in the genesis of desmoid tumors and gastric fundic gland polyposis.

Desmoid tumours in Gardener's syndrome are a rare cause of ureteric obstruction. We report two cases of ureteric obstruction caused by desmoids, in a mother and daughter.

Purpose: To describe abscess formation complications in desmoid tumors of patients with Gardner's syndrome and percutaneous drainage., Methods: Three patients with Gardner's syndrome and intramesenteric desmoid tumors were diagnosed as having intratumor abscess formation. Percutaneous drainage was the initial method of treatment in each case. Two subsequently underwent surgical resection and one patient refused surgery and was lost to follow-up., Results: In each case, percutaneous drainage and antibiotics resulted in clinical improvement. In two, fistulous communication with the small bowel could be demonstrated, presumed to be the cause of abscess formation. Surgical resection confirmed fistula communication to the small bowel. In the third patient, no fistula was seen and only percutaneous drainage was performed., Conclusion: Abdominal pain and fever in patients with Gardner's syndrome and desmoids is suggestive of abscess formation in these tumors. Percutaneous drainage is useful as initial management.